DUSP18
gene geneOn this page
Also known as DUSP20
Summary
DUSP18 (dual specificity phosphatase 18, HGNC:18484) is a protein-coding gene on chromosome 22q12.2, encoding Dual specificity protein phosphatase 18 (Q8NEJ0). Can dephosphorylate single and diphosphorylated synthetic MAPK peptides, with preference for the phosphotyrosine and diphosphorylated forms over phosphothreonine.
Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP18 contains the consensus DUSP C-terminal catalytic domain but lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).
Source: NCBI Gene 150290 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 41 total
- MANE Select transcript:
NM_152511
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18484 |
| Approved symbol | DUSP18 |
| Name | dual specificity phosphatase 18 |
| Location | 22q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DUSP20 |
| Ensembl gene | ENSG00000167065 |
| Ensembl biotype | protein_coding |
| OMIM | 611446 |
| Entrez | 150290 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 19 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000334679, ENST00000342474, ENST00000377087, ENST00000403268, ENST00000404885, ENST00000407308, ENST00000412865, ENST00000430175, ENST00000442752, ENST00000461301, ENST00000866296, ENST00000866297, ENST00000866298, ENST00000866299, ENST00000866300, ENST00000866301, ENST00000866302, ENST00000912603, ENST00000912604, ENST00000965881, ENST00000965882, ENST00000965883, ENST00000965884
RefSeq mRNA: 4 — MANE Select: NM_152511
NM_001304794, NM_001304795, NM_001304796, NM_152511
CCDS: CCDS13883, CCDS77667
Canonical transcript exons
ENST00000334679 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001332764 | 30661445 | 30664080 |
| ENSE00001940744 | 30667462 | 30667875 |
Expression profiles
Bgee: expression breadth ubiquitous, 223 present calls, max score 96.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.4586 / max 90.8435, expressed in 1699 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 193658 | 7.2236 | 1693 |
| 193657 | 0.2350 | 106 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 96.48 | gold quality |
| bronchial epithelial cell | CL:0002328 | 94.36 | gold quality |
| bronchus | UBERON:0002185 | 93.30 | gold quality |
| oocyte | CL:0000023 | 90.13 | gold quality |
| ileal mucosa | UBERON:0000331 | 89.77 | gold quality |
| oviduct epithelium | UBERON:0004804 | 89.05 | gold quality |
| left testis | UBERON:0004533 | 87.42 | gold quality |
| right testis | UBERON:0004534 | 87.04 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.00 | gold quality |
| testis | UBERON:0000473 | 85.81 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 84.68 | gold quality |
| cortical plate | UBERON:0005343 | 83.26 | gold quality |
| sperm | CL:0000019 | 82.99 | silver quality |
| right uterine tube | UBERON:0001302 | 82.85 | gold quality |
| blood | UBERON:0000178 | 82.68 | gold quality |
| pancreatic ductal cell | CL:0002079 | 82.37 | silver quality |
| cardiac muscle of right atrium | UBERON:0003379 | 81.99 | gold quality |
| tibialis anterior | UBERON:0001385 | 81.66 | silver quality |
| monocyte | CL:0000576 | 81.41 | gold quality |
| leukocyte | CL:0000738 | 81.27 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 81.10 | gold quality |
| fallopian tube | UBERON:0003889 | 79.63 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 79.53 | gold quality |
| kidney epithelium | UBERON:0004819 | 78.58 | gold quality |
| buccal mucosa cell | CL:0002336 | 78.28 | gold quality |
| granulocyte | CL:0000094 | 78.19 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 78.06 | gold quality |
| rectum | UBERON:0001052 | 77.90 | gold quality |
| upper arm skin | UBERON:0004263 | 77.68 | gold quality |
| ganglionic eminence | UBERON:0004023 | 77.24 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.40 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
77 targeting DUSP18, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-8062 | 99.88 | 68.43 | 995 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-1208 | 99.70 | 68.28 | 1533 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
Literature-anchored findings (GeneRIF, showing 5)
- molecular cloning, base sequence and amino acid sequence (PMID:12591617)
- The crystal structure of human DSP18 (official symbol DUSP18) has been determined at 2.0 A resolution. (PMID:16699184)
- DUSP18 appears to serve an important role by regulation of SAPK/JNK pathway (PMID:16720344)
- JNK and DUSP18 reciprocally modulate the SUMOylation, which plays a regulatory role in the aggregation of ataxin-1. (PMID:29852174)
- Hypoxia-induced HIF1A activates DUSP18-mediated MAPK14 dephosphorylation to promote hepatocellular carcinoma cell migration and invasion. (PMID:35841693)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Dusp18 | ENSMUSG00000047205 |
| rattus_norvegicus | Dusp18 | ENSRNOG00000024945 |
Paralogs (31): DUSP13B (ENSG00000079393), DUSP12 (ENSG00000081721), SSH1 (ENSG00000084112), DUSP3 (ENSG00000108861), PTPMT1 (ENSG00000110536), DUSP16 (ENSG00000111266), EPM2A (ENSG00000112425), DUSP22 (ENSG00000112679), DUSP1 (ENSG00000120129), DUSP4 (ENSG00000120875), STYXL1 (ENSG00000127952), DUSP9 (ENSG00000130829), DUSP26 (ENSG00000133878), DUSP5 (ENSG00000138166), DUSP6 (ENSG00000139318), SSH2 (ENSG00000141298), DUSP10 (ENSG00000143507), DUSP15 (ENSG00000149599), DUSP2 (ENSG00000158050), KASH5 (ENSG00000161609), DUSP19 (ENSG00000162999), DUSP7 (ENSG00000164086), SSH3 (ENSG00000172830), DUSP8 (ENSG00000184545), DUSP28 (ENSG00000188542), DUSP29 (ENSG00000188716), DUSP21 (ENSG00000189037), STYX (ENSG00000198252), STYXL2 (ENSG00000198842), DUSP14 (ENSG00000276023), DUSP13A (ENSG00000293543)
Protein
Protein identifiers
Dual specificity protein phosphatase 18 — Q8NEJ0 (reviewed: Q8NEJ0)
Alternative names: Low molecular weight dual specificity phosphatase 20
All UniProt accessions (5): C9JEE9, F2Z2P2, F8VX42, H7C401, Q8NEJ0
UniProt curated annotations — full annotation on UniProt →
Function. Can dephosphorylate single and diphosphorylated synthetic MAPK peptides, with preference for the phosphotyrosine and diphosphorylated forms over phosphothreonine. In vitro, dephosphorylates p-nitrophenyl phosphate (pNPP). In bone tissue, upon activation of the G(q)-dependent KISS1/KISS1R signaling pathway, DUSP18 is recruited to the KISS1R C-terminus where it dephosphorylates SRC, resulting in down-regulation of osteoclast differentiation and activity, and consequently suppression of bone resorption.
Subunit / interactions. Interacts with KISS1R and SRC; the interaction depends on activation of KISS1/KISS1R signaling pathway and is required for SRC dephosphorylation and inactivation. Interaction with KISS1R and SRC is relevant for down-regulation of osteoclast differentiation and activity, and consequently suppression of bone resorption.
Subcellular location. Cytoplasm. Nucleus. Mitochondrion inner membrane.
Tissue specificity. Widely expressed with highest levels in liver, brain, ovary and testis.
Activity regulation. Activated by manganese ions, inhibited by iodoacetic acid.
Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily.
RefSeq proteins (4): NP_001291723, NP_001291724, NP_001291725, NP_689724* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000340 | Dual-sp_phosphatase_cat-dom | Domain |
| IPR000387 | Tyr_Pase_dom | Domain |
| IPR016130 | Tyr_Pase_AS | Active_site |
| IPR020420 | Atypical_DUSP_subfamB | Family |
| IPR020422 | TYR_PHOSPHATASE_DUAL_dom | Domain |
| IPR029021 | Prot-tyrosine_phosphatase-like | Homologous_superfamily |
Pfam: PF00782
Catalyzed reactions (Rhea), 3 shown:
- O-phospho-L-tyrosyl-[protein] + H2O = L-tyrosyl-[protein] + phosphate (RHEA:10684)
- O-phospho-L-seryl-[protein] + H2O = L-seryl-[protein] + phosphate (RHEA:20629)
- O-phospho-L-threonyl-[protein] + H2O = L-threonyl-[protein] + phosphate (RHEA:47004)
UniProt features (23 total): helix 8, strand 6, mutagenesis site 5, chain 1, domain 1, active site 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2ESB | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NEJ0-F1 | 92.97 | 0.86 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 104 (phosphocysteine intermediate)
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 73 | abolishes most of in vitro phosphatase activity. |
| 102 | no effect on in vitro phosphatase activity. |
| 104 | abolishes most of phosphatase activity. decreases interaction with src. decreases src phosphorylation. |
| 110 | abolishes most of in vitro phosphatase activity. |
| 111 | abolishes most of in vitro phosphatase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 117 (showing top):
GOBP_NEGATIVE_REGULATION_OF_TISSUE_REMODELING, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_REGULATION_OF_BONE_REMODELING, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_DEPHOSPHORYLATION, GOBP_PROTEIN_DEPHOSPHORYLATION, GOBP_BONE_RESORPTION, GOBP_REGULATION_OF_TISSUE_REMODELING, GRADE_COLON_AND_RECTAL_CANCER_UP, GOCC_ORGANELLE_INNER_MEMBRANE, GOBP_HOMEOSTATIC_PROCESS, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_PROTEIN_SERINE_THREONINE_PHOSPHATASE_ACTIVITY, GOMF_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY
GO Biological Process (4): dephosphorylation (GO:0016311), peptidyl-tyrosine dephosphorylation (GO:0035335), peptidyl-threonine dephosphorylation (GO:0035970), protein dephosphorylation (GO:0006470)
GO Molecular Function (8): protein serine/threonine phosphatase activity (GO:0004722), protein tyrosine phosphatase activity (GO:0004725), protein tyrosine/serine/threonine phosphatase activity (GO:0008138), phosphatase activity (GO:0016791), MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017), phosphoprotein phosphatase activity (GO:0004721), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitochondrial inner membrane (GO:0005743), mitochondrion (GO:0005739), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| phosphoprotein phosphatase activity | 3 |
| cellular anatomical structure | 3 |
| protein dephosphorylation | 2 |
| intracellular membrane-bounded organelle | 2 |
| phosphate-containing compound metabolic process | 1 |
| dephosphorylation | 1 |
| protein modification process | 1 |
| phosphoric ester hydrolase activity | 1 |
| protein tyrosine/serine/threonine phosphatase activity | 1 |
| MAP kinase phosphatase activity | 1 |
| phosphatase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| binding | 1 |
| catalytic activity | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
718 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DUSP18 | MAPK8 | P45983 | 478 |
| DUSP18 | HDHD5 | Q9BXW7 | 456 |
| DUSP18 | PTPN21 | Q16825 | 432 |
| DUSP18 | DUSP11 | O75319 | 424 |
| DUSP18 | MAPK14 | Q16539 | 421 |
| DUSP18 | MAPK3 | P27361 | 421 |
| DUSP18 | KCNT2 | Q6UVM3 | 395 |
| DUSP18 | PPM1M | Q96MI6 | 385 |
| DUSP18 | PLPP6 | Q8IY26 | 368 |
| DUSP18 | NMRK2 | Q9NPI5 | 359 |
| DUSP18 | H0YHX9 | H0YHX9 | 356 |
| DUSP18 | KCNE5 | Q9UJ90 | 352 |
| DUSP18 | DAP | P51397 | 349 |
| DUSP18 | PUDP | Q08623 | 341 |
| DUSP18 | MTMR9 | Q96QG7 | 338 |
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DUSP18 | JPH3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| INSR | DUSP18 | psi-mi:“MI:0915”(physical association) | 0.510 |
| DUSP18 | INSR | psi-mi:“MI:0915”(physical association) | 0.510 |
| DUSP18 | PTPN6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DUSP18 | MAPK8IP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP18 | ERBB4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP18 | ERBB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP18 | ERBB3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP18 | TEK | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP18 | ROR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP18 | ROR2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP18 | IGF1R | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP18 | PTK7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP18 | EPHA3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP18 | EPHA7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP18 | EPHA2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUSP18 | EPHB6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KLHL22 | TRAV18 | psi-mi:“MI:0914”(association) | 0.350 |
| DUSP18 | SNX4 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (25): DUSP18 (Two-hybrid), DUSP18 (Affinity Capture-Western), DUSP18 (Affinity Capture-Western), DUSP18 (Two-hybrid), DUSP18 (Two-hybrid), PTPN6 (Affinity Capture-MS), DCP1A (Proximity Label-MS), SNX4 (Proximity Label-MS), GORASP2 (Proximity Label-MS), HELZ (Proximity Label-MS), DUSP18 (Two-hybrid), DUSP18 (Two-hybrid), DUSP18 (Two-hybrid), DUSP18 (Two-hybrid), DUSP18 (Two-hybrid)
ESM2 similar proteins: A0A3L7I2I8, B2RZ50, E9Q4Z2, G4LTX4, O08586, O42099, O54857, O60733, O82656, O88712, O94806, P29074, P60483, P60484, P97570, P97819, Q02384, Q07832, Q07890, Q16667, Q1PET6, Q4R678, Q5BIP9, Q5F361, Q5F480, Q5IH13, Q5IH14, Q5RF15, Q5VNW5, Q641K1, Q66H63, Q6AXW7, Q6NRC7, Q6NU47, Q6NU98, Q810P3, Q8BM85, Q8K1Y2, Q8NEJ0, Q8TEA7
Diamond homologs: A4IHU7, F1QWM2, O09112, O13632, O55737, O95147, P0C591, P0C592, P0C593, P0C594, P0C595, P0C596, P0C597, P0C598, P0C599, P0C5A0, P0C5A1, P0C5A2, P28562, P28563, P51452, Q05922, Q13115, Q13202, Q148W8, Q16828, Q16829, Q17QJ3, Q17QM8, Q1LWL2, Q29RA3, Q2KJ36, Q39491, Q4KL92, Q4RQD3, Q4V7N3, Q54T76, Q54Y32, Q556Y8, Q55BI8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 19 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cell surface receptor protein tyrosine kinase signaling pathway | 7 | 67.6× | 2e-09 |
| positive regulation of MAPK cascade | 6 | 26.9× | 5e-06 |
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 6 | 26.1× | 5e-06 |
| negative regulation of apoptotic process | 5 | 9.7× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
41 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 35 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
975 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:30663462:T:TA | donor_gain | 0.9900 |
| 22:30664081:C:CC | acceptor_gain | 0.9900 |
| 22:30664947:C:A | donor_gain | 0.9900 |
| 22:30667467:T:A | donor_gain | 0.9800 |
| 22:30654646:T:C | acceptor_gain | 0.9700 |
| 22:30664076:GAAAA:G | acceptor_gain | 0.9700 |
| 22:30664078:AAA:A | acceptor_gain | 0.9700 |
| 22:30664079:AA:A | acceptor_gain | 0.9700 |
| 22:30665117:CAAAG:C | acceptor_gain | 0.9700 |
| 22:30652298:C:CC | acceptor_gain | 0.9600 |
| 22:30664078:AAAC:A | acceptor_loss | 0.9600 |
| 22:30664079:AACT:A | acceptor_loss | 0.9600 |
| 22:30664081:C:T | acceptor_loss | 0.9600 |
| 22:30663403:CCT:C | donor_gain | 0.9500 |
| 22:30663835:C:CT | donor_gain | 0.9500 |
| 22:30663836:T:TT | donor_gain | 0.9500 |
| 22:30664080:ACTGC:A | acceptor_gain | 0.9500 |
| 22:30664946:T:TA | donor_gain | 0.9500 |
| 22:30654304:T:C | donor_gain | 0.9400 |
| 22:30664949:CTTCA:C | donor_loss | 0.9400 |
| 22:30664950:TTCA:T | donor_loss | 0.9400 |
| 22:30664951:TCACC:T | donor_loss | 0.9400 |
| 22:30664952:CA:C | donor_loss | 0.9400 |
| 22:30664953:A:AC | donor_loss | 0.9400 |
| 22:30664954:C:CT | donor_loss | 0.9400 |
| 22:30667461:CCTCT:C | donor_gain | 0.9400 |
| 22:30652294:GGGG:G | acceptor_gain | 0.9300 |
| 22:30654303:A:AC | donor_gain | 0.9300 |
| 22:30663834:A:AC | donor_gain | 0.9300 |
| 22:30664081:CTGC:C | acceptor_gain | 0.9300 |
AlphaMissense
1244 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:30663563:A:C | F147L | 0.996 |
| 22:30663563:A:T | F147L | 0.996 |
| 22:30663565:A:G | F147L | 0.996 |
| 22:30663677:G:C | S109R | 0.995 |
| 22:30663677:G:T | S109R | 0.995 |
| 22:30663678:C:A | S109I | 0.995 |
| 22:30663679:T:G | S109R | 0.995 |
| 22:30663616:C:G | A130P | 0.994 |
| 22:30663552:A:G | L151P | 0.991 |
| 22:30663576:G:T | P143H | 0.991 |
| 22:30663577:G:A | P143S | 0.991 |
| 22:30663914:G:C | S30R | 0.991 |
| 22:30663914:G:T | S30R | 0.991 |
| 22:30663916:T:G | S30R | 0.991 |
| 22:30663684:C:T | G107D | 0.990 |
| 22:30663552:A:T | L151H | 0.989 |
| 22:30663785:G:C | D73E | 0.988 |
| 22:30663785:G:T | D73E | 0.988 |
| 22:30663564:A:G | F147S | 0.987 |
| 22:30663592:G:C | R138G | 0.987 |
| 22:30663615:G:T | A130D | 0.987 |
| 22:30663659:G:C | C115W | 0.987 |
| 22:30663661:A:G | C115R | 0.987 |
| 22:30663787:C:G | D73H | 0.987 |
| 22:30663692:A:C | C104W | 0.986 |
| 22:30663694:A:G | C104R | 0.986 |
| 22:30663676:G:T | R110S | 0.985 |
| 22:30663684:C:A | G107V | 0.985 |
| 22:30663654:G:T | A117D | 0.984 |
| 22:30663669:G:T | A112D | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000095639 (22:30652366 T>C), RS1000148986 (22:30660115 T>C), RS1000354461 (22:30666697 A>G), RS1000356204 (22:30661694 G>A), RS1000447800 (22:30652679 G>A), RS1000818153 (22:30666451 G>A), RS1000961869 (22:30660476 G>GA), RS1001011504 (22:30654304 T>C), RS1001046748 (22:30654140 C>A,T), RS1001117826 (22:30666915 A>C), RS1001330204 (22:30660753 A>G,T), RS1001407874 (22:30661176 G>A), RS1001432506 (22:30659327 G>C), RS1001473367 (22:30659155 T>A,C), RS1001499209 (22:30654040 C>A,G,T)
Disease associations
OMIM: gene MIM:611446 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 3 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| urushiol | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Benzene | increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.